Incidental Mutation 'IGL03348:Plac1'
ID 419550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plac1
Ensembl Gene ENSMUSG00000061082
Gene Name placental specific protein 1
Synonyms Oosp2l, Epcs26, DXWsu72e
Accession Numbers
Essential gene? Not available question?
Stock # IGL03348
Quality Score
Status
Chromosome X
Chromosomal Location 52158872-52328988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52159517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 64 (N64K)
Ref Sequence ENSEMBL: ENSMUSP00000133862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074861] [ENSMUST00000114843] [ENSMUST00000174390]
AlphaFold Q9JI83
Predicted Effect probably damaging
Transcript: ENSMUST00000074861
AA Change: N64K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074404
Gene: ENSMUSG00000061082
AA Change: N64K

DomainStartEndE-ValueType
Pfam:Zona_pellucida 9 171 1.2e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114843
AA Change: N64K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110492
Gene: ENSMUSG00000061082
AA Change: N64K

DomainStartEndE-ValueType
Pfam:Zona_pellucida 9 171 1.2e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174390
AA Change: N64K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133862
Gene: ENSMUSG00000061082
AA Change: N64K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Zona_pellucida 30 167 1.6e-10 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Female and male mice null for this gene display postnatal lethality with placental abnormalities. Female mice heterozygous for this allele display an enlarged placenta with expansion of the junctional zone. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik A C 8: 100,148,324 (GRCm39) noncoding transcript Het
Actmap T G 7: 26,896,545 (GRCm39) probably null Het
Adgrv1 T C 13: 81,647,177 (GRCm39) N3121S possibly damaging Het
Aldh16a1 C T 7: 44,791,399 (GRCm39) R102Q possibly damaging Het
Atp9b A T 18: 80,879,637 (GRCm39) I346K possibly damaging Het
Baiap2l1 T C 5: 144,215,341 (GRCm39) K388R probably benign Het
Cfap65 A C 1: 74,966,778 (GRCm39) I303S probably damaging Het
Chd5 C T 4: 152,461,142 (GRCm39) P1244L probably damaging Het
Col12a1 A G 9: 79,600,712 (GRCm39) S791P possibly damaging Het
Ctsz T A 2: 174,270,490 (GRCm39) I231F probably damaging Het
Dnah8 A G 17: 30,965,960 (GRCm39) T2431A probably damaging Het
Eif4b T C 15: 102,001,466 (GRCm39) probably benign Het
Epha4 T C 1: 77,483,809 (GRCm39) I67V possibly damaging Het
Exoc1 T A 5: 76,683,440 (GRCm39) V55D probably damaging Het
Exosc8 A T 3: 54,640,143 (GRCm39) D72E possibly damaging Het
F5 C T 1: 164,021,721 (GRCm39) P1399S possibly damaging Het
Fmo1 T A 1: 162,677,720 (GRCm39) N132I possibly damaging Het
Fndc1 T A 17: 7,991,479 (GRCm39) H739L unknown Het
Glb1l2 T C 9: 26,676,976 (GRCm39) D415G probably benign Het
Gphn T A 12: 78,673,893 (GRCm39) H498Q probably damaging Het
Lrrc56 A G 7: 140,787,153 (GRCm39) N342S probably benign Het
Mbnl3 G A X: 50,253,425 (GRCm39) T16I probably damaging Het
Mrps5 T G 2: 127,443,305 (GRCm39) H294Q probably damaging Het
Neu4 A G 1: 93,952,696 (GRCm39) Y355C possibly damaging Het
Obscn A T 11: 58,941,188 (GRCm39) D5105E probably damaging Het
Or4ac1-ps1 T C 2: 88,370,485 (GRCm39) noncoding transcript Het
Or4f56 C A 2: 111,703,493 (GRCm39) A236S probably damaging Het
Or4k15b A G 14: 50,272,212 (GRCm39) I216T probably benign Het
Or5p73 A G 7: 108,064,615 (GRCm39) D28G probably benign Het
Parp1 T A 1: 180,405,272 (GRCm39) probably benign Het
Plcd1 C A 9: 118,901,558 (GRCm39) K655N possibly damaging Het
Psme4 T C 11: 30,826,796 (GRCm39) S1772P probably damaging Het
Shcbp1 C T 8: 4,815,089 (GRCm39) V130I probably benign Het
Slc25a11 T C 11: 70,536,170 (GRCm39) probably benign Het
Svep1 C T 4: 58,113,635 (GRCm39) G1004E probably damaging Het
Tars2 T C 3: 95,647,580 (GRCm39) probably null Het
Tbc1d12 C T 19: 38,905,064 (GRCm39) T593I probably damaging Het
Tcerg1l T A 7: 137,815,100 (GRCm39) E526D probably damaging Het
Tmcc3 G A 10: 94,414,942 (GRCm39) V215M possibly damaging Het
Trappc8 T C 18: 20,985,838 (GRCm39) D601G probably damaging Het
Trp53bp2 T A 1: 182,281,313 (GRCm39) N971K probably damaging Het
Ube2g2 A T 10: 77,466,711 (GRCm39) E36D probably benign Het
Uggt2 T A 14: 119,308,300 (GRCm39) R360S probably benign Het
Utp20 A G 10: 88,594,179 (GRCm39) V2182A probably benign Het
Other mutations in Plac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Plac1 APN X 52,159,593 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02